ENSG00000136881


Homo sapiens

Features
Gene ID: ENSG00000136881
  
Biological name :BAAT
  
Synonyms : BAAT / bile acid-CoA:amino acid N-acyltransferase / Q14032
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q31.1
Gene start: 101360417
Gene end: 101383519
  
Corresponding Affymetrix probe sets: 206913_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000259407
Ensembl peptide - ENSP00000378491
NCBI entrez gene - 570     See in Manteia.
OMIM - 602938
RefSeq - NM_001127610
RefSeq - NM_001701
RefSeq Peptide - NP_001121082
RefSeq Peptide - NP_001692
swissprot - Q14032
Ensembl - ENSG00000136881
  
Related genetic diseases (OMIM): 607748 - Hypercholanemia, familial, 607748
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 BaatENSMUSG00000039653Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACOT1 / Q86TX2 / acyl-CoA thioesterase 1ENSG0000018422745
ACOT2 / P49753 / acyl-CoA thioesterase 2ENSG0000011967345
ACOT4 / Q8N9L9 / acyl-CoA thioesterase 4ENSG0000017746544
ACOT6 / Q3I5F7 / acyl-CoA thioesterase 6ENSG0000020566917


Protein motifs (from Interpro)
Interpro ID Name
 IPR006862  Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase
 IPR014940  BAAT/Acyl-CoA thioester hydrolase C-terminal
 IPR016662  Acyl-CoA thioesterase, long chain
 IPR029058  Alpha/Beta hydrolase fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IEA
 biological_processGO:0002152 bile acid conjugation IDA
 biological_processGO:0006544 glycine metabolic process IDA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IBA
 biological_processGO:0006637 acyl-CoA metabolic process IDA
 biological_processGO:0006699 bile acid biosynthetic process IDA
 biological_processGO:0008206 bile acid metabolic process TAS
 biological_processGO:0019530 taurine metabolic process IDA
 biological_processGO:0031100 animal organ regeneration IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005777 peroxisome IEA
 cellular_componentGO:0005782 peroxisomal matrix TAS
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016290 palmitoyl-CoA hydrolase activity IEA
 molecular_functionGO:0016410 N-acyltransferase activity IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016790 thiolester hydrolase activity IEA
 molecular_functionGO:0047963 glycine N-choloyltransferase activity IEA
 molecular_functionGO:0052689 carboxylic ester hydrolase activity IEA
 molecular_functionGO:0052815 medium-chain acyl-CoA hydrolase activity IDA
 molecular_functionGO:0052816 long-chain acyl-CoA hydrolase activity IDA
 molecular_functionGO:0052817 very long chain acyl-CoA hydrolase activity IDA
 molecular_functionGO:0102991 myristoyl-CoA hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Recycling of bile acids and salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Peroxisomal protein import


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002570 Steatorrhea 
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 HP:0002748 Rickets 
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 HP:0011892 Vitamin K deficiency 
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 HP:0012202 increased serum bile acid concentration "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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